The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors

Detalhes bibliográficos
Autor(a) principal: Hengel, Holger
Data de Publicação: 2023
Outros Autores: Martus, Peter, Faber, Jennifer, Giunit, Paola, Garcia-Moreno, Hector, Solanky, Nita, Klockgether, Thomas, Reetz, Kathrin, van de Warrenburg, Bart P., Santana, Magda M., Silva, Patrick Joel da, Cunha, Inês, Almeida, Luís Pereira de, Timmann, Dagmar, Infante, Jon, de Vries, Jeroen, Lima, Manuela, Pires, Paula, Bushara, Khalaf, Jacobi, Heike, Onyike, Chiadi, Schmahmann, Jeremy D., Hübener-Schmid, Jeannette, Synofzik, Matthis, Schöls, Ludger
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Texto Completo: https://hdl.handle.net/10316/114142
https://doi.org/10.1007/s00415-022-11441-z
Resumo: Background Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS. Objective To characterize NMS in SCA3 and investigate possible associations with disease severity and lifestyle factors. Methods In a prospective cohort study, we performed a cross-sectional analysis of NMS in 227 SCA3 patients, 42 pre-ataxic mutation carriers, and 112 controls and tested for associations with SARA score, activities of daily living, and the lifestyle factors alcohol consumption, smoking and physical activity. Results Sleep disturbance, restless legs syndrome, mild cognitive impairment, depression, bladder dysfunction and pallhypesthesia were frequent among SCA3 patients, while mainly absent in pre-ataxic mutation carriers. Except for restless legs syndrome, NMS correlated significantly with disease severity and activities of daily living. Alcohol abstinence was associated with bladder dysfunction. Patients with higher physical activity showed less cognitive impairment and fewer depressive symptoms, but these differences were not significant. Conclusion This study revealed a clear association between disease severity and NMS, likely driven by the progression of the widespread neurodegenerative process. Associations between lifestyle and NMS can probably be attributed to the influence of NMS on lifestyle.
id RCAP_4cd1535a67917869008fcbdce20a374e
oai_identifier_str oai:estudogeral.uc.pt:10316/114142
network_acronym_str RCAP
network_name_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository_id_str https://opendoar.ac.uk/repository/7160
spelling The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factorsSCA3Non-motor symptomsLifestylePhysical activityHumansProspective StudiesCross-Sectional StudiesActivities of Daily LivingPatient AcuityLife StyleRestless Legs SyndromeBackground Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS. Objective To characterize NMS in SCA3 and investigate possible associations with disease severity and lifestyle factors. Methods In a prospective cohort study, we performed a cross-sectional analysis of NMS in 227 SCA3 patients, 42 pre-ataxic mutation carriers, and 112 controls and tested for associations with SARA score, activities of daily living, and the lifestyle factors alcohol consumption, smoking and physical activity. Results Sleep disturbance, restless legs syndrome, mild cognitive impairment, depression, bladder dysfunction and pallhypesthesia were frequent among SCA3 patients, while mainly absent in pre-ataxic mutation carriers. Except for restless legs syndrome, NMS correlated significantly with disease severity and activities of daily living. Alcohol abstinence was associated with bladder dysfunction. Patients with higher physical activity showed less cognitive impairment and fewer depressive symptoms, but these differences were not significant. Conclusion This study revealed a clear association between disease severity and NMS, likely driven by the progression of the widespread neurodegenerative process. Associations between lifestyle and NMS can probably be attributed to the influence of NMS on lifestyle.This publication is an outcome of ESMI, an EU Joint Programme— Neurodegenerative Disease Research (JPND) project (see www. jpnd. eu). The project was supported through the following funding organizations under the aegis of JPND: Germany, Federal Ministry of Education and Research (BMBF; funding codes 01ED1602A/B); Netherlands, The Netherlands Organisation for Health Research and Development; Portugal, Foundation for Science and Technology (FCT); United Kingdom, Medical Research Council. This project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement No 643417. H.H. was supported by the Deutsche Forschungsgemeinschaft (DFG, HE 8803/1–1). At the US sites, this work was in part supported by the National Ataxia Foundation and the National Institute of Neurological Disorders and Stroke (NINDS) grant R01 NS080816. Several authors are members of the European Reference Network for Rare Neurological Diseases—Project No 739510. Bart van de Warrenburg receives research support from ZonMw, Hersenstichting, Gossweiler Foundation, and Radboud university medical center, receives royalties from BSL – Springer Nature, and has served on scientific advisory boards of uniQure and Servier. Jeremy D. Schmahmann is inventor of the CCAS/ Schmahmann Scale, the PROM-Ataxia, Brief Ataxia Rating Scale, and Cerebellar Neuropsychiatric Rating Scale to which the General Hospital Corporation holds the copyright. He consults for Biogen and Medavante, receives support from Biohaven and the National Ataxia Foundation, is site PI for Biohaven NCT03952806 and NCT03701399, and receives royalties from Elsevier, MacKeith, Oxford, and Springer. Matthis Synofzik has received consultancy honoraria from Janssen Pharmaceuticals, Ionis Pharmaceuticals, Orphazyme Pharmaceuticals and AviadoBio, all unrelated to the present manuscript.Springer Nature2023-02info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://hdl.handle.net/10316/114142https://hdl.handle.net/10316/114142https://doi.org/10.1007/s00415-022-11441-zeng0340-53541432-1459Hengel, HolgerMartus, PeterFaber, JenniferGiunit, PaolaGarcia-Moreno, HectorSolanky, NitaKlockgether, ThomasReetz, Kathrinvan de Warrenburg, Bart P.Santana, Magda M.Silva, Patrick Joel daCunha, InêsAlmeida, Luís Pereira deTimmann, DagmarInfante, Jonde Vries, JeroenLima, ManuelaPires, PaulaBushara, KhalafJacobi, HeikeOnyike, ChiadiSchmahmann, Jeremy D.Hübener-Schmid, JeannetteSynofzik, MatthisSchöls, Ludgerinfo:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2024-03-21T11:30:54Zoai:estudogeral.uc.pt:10316/114142Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T06:06:58.664879Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
title The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
spellingShingle The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
Hengel, Holger
SCA3
Non-motor symptoms
Lifestyle
Physical activity
Humans
Prospective Studies
Cross-Sectional Studies
Activities of Daily Living
Patient Acuity
Life Style
Restless Legs Syndrome
title_short The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
title_full The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
title_fullStr The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
title_full_unstemmed The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
title_sort The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
author Hengel, Holger
author_facet Hengel, Holger
Martus, Peter
Faber, Jennifer
Giunit, Paola
Garcia-Moreno, Hector
Solanky, Nita
Klockgether, Thomas
Reetz, Kathrin
van de Warrenburg, Bart P.
Santana, Magda M.
Silva, Patrick Joel da
Cunha, Inês
Almeida, Luís Pereira de
Timmann, Dagmar
Infante, Jon
de Vries, Jeroen
Lima, Manuela
Pires, Paula
Bushara, Khalaf
Jacobi, Heike
Onyike, Chiadi
Schmahmann, Jeremy D.
Hübener-Schmid, Jeannette
Synofzik, Matthis
Schöls, Ludger
author_role author
author2 Martus, Peter
Faber, Jennifer
Giunit, Paola
Garcia-Moreno, Hector
Solanky, Nita
Klockgether, Thomas
Reetz, Kathrin
van de Warrenburg, Bart P.
Santana, Magda M.
Silva, Patrick Joel da
Cunha, Inês
Almeida, Luís Pereira de
Timmann, Dagmar
Infante, Jon
de Vries, Jeroen
Lima, Manuela
Pires, Paula
Bushara, Khalaf
Jacobi, Heike
Onyike, Chiadi
Schmahmann, Jeremy D.
Hübener-Schmid, Jeannette
Synofzik, Matthis
Schöls, Ludger
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Hengel, Holger
Martus, Peter
Faber, Jennifer
Giunit, Paola
Garcia-Moreno, Hector
Solanky, Nita
Klockgether, Thomas
Reetz, Kathrin
van de Warrenburg, Bart P.
Santana, Magda M.
Silva, Patrick Joel da
Cunha, Inês
Almeida, Luís Pereira de
Timmann, Dagmar
Infante, Jon
de Vries, Jeroen
Lima, Manuela
Pires, Paula
Bushara, Khalaf
Jacobi, Heike
Onyike, Chiadi
Schmahmann, Jeremy D.
Hübener-Schmid, Jeannette
Synofzik, Matthis
Schöls, Ludger
dc.subject.por.fl_str_mv SCA3
Non-motor symptoms
Lifestyle
Physical activity
Humans
Prospective Studies
Cross-Sectional Studies
Activities of Daily Living
Patient Acuity
Life Style
Restless Legs Syndrome
topic SCA3
Non-motor symptoms
Lifestyle
Physical activity
Humans
Prospective Studies
Cross-Sectional Studies
Activities of Daily Living
Patient Acuity
Life Style
Restless Legs Syndrome
description Background Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS. Objective To characterize NMS in SCA3 and investigate possible associations with disease severity and lifestyle factors. Methods In a prospective cohort study, we performed a cross-sectional analysis of NMS in 227 SCA3 patients, 42 pre-ataxic mutation carriers, and 112 controls and tested for associations with SARA score, activities of daily living, and the lifestyle factors alcohol consumption, smoking and physical activity. Results Sleep disturbance, restless legs syndrome, mild cognitive impairment, depression, bladder dysfunction and pallhypesthesia were frequent among SCA3 patients, while mainly absent in pre-ataxic mutation carriers. Except for restless legs syndrome, NMS correlated significantly with disease severity and activities of daily living. Alcohol abstinence was associated with bladder dysfunction. Patients with higher physical activity showed less cognitive impairment and fewer depressive symptoms, but these differences were not significant. Conclusion This study revealed a clear association between disease severity and NMS, likely driven by the progression of the widespread neurodegenerative process. Associations between lifestyle and NMS can probably be attributed to the influence of NMS on lifestyle.
publishDate 2023
dc.date.none.fl_str_mv 2023-02
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://hdl.handle.net/10316/114142
https://hdl.handle.net/10316/114142
https://doi.org/10.1007/s00415-022-11441-z
url https://hdl.handle.net/10316/114142
https://doi.org/10.1007/s00415-022-11441-z
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 0340-5354
1432-1459
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Springer Nature
publisher.none.fl_str_mv Springer Nature
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
_version_ 1833602581288452096